Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

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Author(s)

De, Tisham

Goncalves, Angela

Speed, Doug

Froguel, Philippe

Gaffney, Daniel J

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Type

Journal Article

Abstract

Here, with the example of common copy number variation (CNV) in the TSPAN8 gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human traits such as 1H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report TSPAN8 exon 11 (ENSE00003720745) as a pleiotropic locus associated with metabolomic regulation and show that its biology is associated with several metabolic diseases such as type 2 diabetes (T2D) and cancer. Our results further demonstrate the power of multivariate association models over univariate methods and define metabolomic signatures for variants in TSPAN8.

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Date Issued

2021-08-20

Date Acceptance

2021-07-01

Citation

iScience, 2021, 24 (8)

URI

http://hdl.handle.net/10044/1/99454

URL

https://www.cell.com/iscience/fulltext/S2589-0042(21)00861-0?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2589004221008610%3Fshowall%3Dtrue

DOI

https://www.dx.doi.org/10.1016/j.isci.2021.102893

ISSN

2589-0042

Publisher

Cell Press

Journal / Book Title

iScience

Volume

24

Issue

8

Copyright Statement

© 2021 The Author(s).

License URL

http://creativecommons.org/licenses/by-nc-nd/4.0/

Identifier

https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000686897200077&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202

Subjects

Science & Technology

Multidisciplinary Sciences

Science & Technology - Other Topics

POLYMORPHISMS

Publication Status

Published

Article Number

ARTN 102893